The study of all RNA transcripts in a cell or tissue at a given time.Transcriptomics is the branch of biology that measures which RNA molecules a cell or tissue is making at a particular moment, and in what amounts. A cell's DNA is essentially the same in every tissue, but the set of genes that are switched on differs enormously between, say, a liver cell and a neuron. Because RNA is the working copy made from active genes, cataloguing the RNA gives a direct readout of which genes are in use. Transcriptomics therefore answers questions that DNA sequencing alone cannot: not what a cell could do, but what it is actually doing right now. It is used to compare healthy and diseased tissue, to classify cancers by their molecular behaviour, to follow how cells respond to a drug or a change in environment, and to identify which genes drive a developmental process.
RNA is extracted from a sample, converted into stable complementary DNA, and then read out by high-throughput sequencing or by hybridisation to microarrays. Each sequencing read is matched back to the genome, and the number of reads landing on a given gene is taken as a measure of how strongly that gene was expressed. Modern single-cell versions isolate individual cells in tiny droplets before sequencing, so that the expression profile of every cell is recorded separately rather than averaged over the whole sample.
Used in cancer diagnostics and in pharmaceutical research to see which genes a drug turns up or down, and in single-cell studies to map the cell types of an organ.
The word 'transcriptome' was coined in 1997 by the molecular biologist Victor Velculescu and colleagues, deliberately modelled on 'genome'.